How do you test for the CBS mutation?

This topic contains 21 replies, has 1 voice, and was last updated by  Lisa S 2 years, 8 months ago.

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  • #2542 Reply


    I have the Vitamin Diagnostics Methylation panel done and I am going to get the spectracell MTHFR test done. How do I test for a CBS mutation. Dr. Ben said you have to treat that first if you have it?

    #2545 Reply


    To test for a CBS mutation, you can do a genome test through 23andMe. The 23andMe test will also include the A1298C and C677T MTHFR mutations. Or, you could test through Army Yasko. Her genome test also includes the MTHFR mutations. Or you could wait until Dr. Ben makes his genome test available. There is no known release date yet on that.

    #2547 Reply


    Thank you Lynn, I am on a mb12 protocol and doing better than before. I am anxious to test, but would like to do it through Dr. Ben. I hope it comes out soon.

    #2548 Reply


    Thank you Lynn, I am anxious to test and get my family tested. I am a little afraid of the raw data form 23 and me and the fact that Dr. Ben is not sure that it can be so accuratate. I would like to do his test. I hope it is released soon.

    #2663 Reply


    Anyone have any idea of when Dr Ben’s test would be ready. I am also wondering if I should wait and test my family or go the Yasko + 23andme route at this point.

    #2704 Reply


    I commented on a post of his about this and emailed him and this is what he put “The lab I worked with stopped the project. Validation is very expensive. This situation makes me wonder if other labs validate their findings – I was not going to put a test on the market unless it was validated.”

    #2726 Reply

    Debbie McQueen

    It is possible to do a backdoor screening for CBS/SOUX via NutrEval testing. The following pattern of abnormalites is highly suggestive of a transulfuration defect: high taurine, high glutamic acid, high aspartic, high cysteine – all AAs, as well as high keto-alphaglutarate, high ammonia, and low molybdenum. Other signs include sulfur intolerance and urine that smells of ammonia and/or sulfur.

    #2732 Reply


    One easy test is supposed to be to use a sulfate test strip for your urine, according to The benefit is that it is a cheap self test. If you are 1600 or higher, then there is a very good chance you have CBS mutations. Ideal range is 400.

    I found them at and the product is QuantoFIX Sulfate part Reference #91329. $30 plus $10 shipping for 100 strips.

    That link also outlines a program if you are CBS++.

    #2751 Reply


    I had a consultation with a physician with Pediatrics and Genetics in Atlanta today. She validated that the information I gave above is correct and a valid way to test for urine sulfates. She said that anything above 800 is high and above 1600 is a clear signal.

    #2752 Reply


    Doesn’t Dr. Ben test for CBS on the methylation panel? I read Jared’s post about validation, but am assuming these are still included… This is posted on the order page:

    Dr. Ben could you list what SNP’s you will be testing on the methylation pathways panel?

    Hello –

    At this point in time, I cannot reveal all of them.

    I will be testing:

    MTHFR, COMT, CBS, MAO A, NOS, SUOX, MTR/MTRR, VDR (maybe), BHMT, DHPR – but also some others which I feel important.

    Our test is still undergoing validation – long process because the genetic company is also making and validating other tests.


    Dr Ben

    #2753 Reply


    P.S. I just ordered the test today, so assumed it was ‘validated’ enough for Dr. Ben to put it out there.

    #2757 Reply


    I’d fall off my chair in surprise if the Vitamin Diagnostics (HDRI) methylation pathways panel you ordered from Dr. Ben’s other site included any kind of genome testing.

    It’s been over six months since Dr. Ben posted about expecting to imminently offer an methylation pathways genome test, and that is the test that was reported to be undergoing validation. Jack recently posted that Dr. Ben said the company decided not to continue pursuing validation, so apparently we should not expect to see Dr. Ben offering such a test. I would hope Dr. Ben will confirm that himself.

    #2761 Reply



    THE lesson I have learned through this process is that if you can afford the testing, you need to get a complete test. Testing only one gene may be recommended in some situations, like if a woman has had miscarriages and tests for MTHFR C677T as a starting point, but from the discussions with several doctors and all the research (Yasko, Heartfixers)rarely do people have 1 mutation acting on its own. Often, like me, you will have 6-7 mutations in the methylation cycle. The treatment plan is very unique to the individual because of how the mutations feed each other.

    Therefore, just testing for CBS is not enough. Yasko\’s panel tests all the key methylation SNPs and deletions. At $1000+ it is expensive, but if you think of all the money on supplements and time you will waste GUESSING at what the root problems are, it makes sense to do the testing.

    At $300 23andme tests 70% of the SNPs and deletion involved in methylation. The added benefit of 23andme is that it test thousands of other SNPs related to disease, drug sensitivity, traits, and medication sensitivity. It confirmed what I learned from other sources that I am at high risk for warfarin drug sensitivity, glaucoma, attribular fibulation, and prostrate cancer. Some question the accuracy of 23andme, but I have yet to find a single error in the findings.

    Then after the testing, you have to start by looking out how the mutations impact each other. According to Yasko, the mutations should be address in a specific order (Pathways to Recovery, pg 77) (1) SHMT, ACAT (2) CBS (3) the rest depending on your make-up. I do not have any SHMT or ACAT so I start with CBS.

    I am not a biochemist, so I struggled coming up to speed. I had more success using my engineering training and thinking about the methylation cycle as an assembly line where each station is responsible for producing certain things. If you look at a picture of the methylation cycle, you will see that it is a series of connected circles. Each circle goes round and round and feeds the circle it is connected to. Since the CBS is my top priority, I think about a mutation in this way:

    \”If the CBS station has a mutation that causes that worker to work 10X normal rate, what impact would that have? A lot. (1) First the CBS \”worker\” is using 10X the raw materials (homocysteine) and cause a flood down the assembly line. This causes a chain reaction of excess ammonia, shortage of glutathione, excess alphaKP, excess sulfite and excess sulfates. The body must clear the ammonia which requires 2 BH4 molecule per 1 ammonia molecule. This sucks up BH4 that cannot be used to make neurotransmitters. Excess alphaKP leads to excitotoxicity\” which cause a glutamate / GABA imbalance. Excess sulfites lead to \”brain fog\” and excess sulfates stimulate \”fight or flight\” response leading to higher cortisol which has a host of issues long term. A shortage of glutathione has a huge impact on our ability to detox heavy metals.

    (2) The other workers on that assembly line are BHMT and MTTR. To make matter worse I have mutations that slow each of those down. That means worker MTTR is slow giving the folate assembly line what it needs and they are not making enough methionine which following the circle around results in a shortage of SAMe.\”

    \”It gets even worse – since I am MTHFR A1298C +-, I am sluggish making BH4 to begin with!\”

    This approach has helped me make sense of the diet and supplementation required. I have to slow the CBS drain. I cannot fix DNA so I have to limit the amount of ammonia and sulfur I consume so that less BH4 is consumed. Animal protein produces ammonia, so its a vegetarian diet for me initially. Perhaps as things improve I may be able to introduce small portion into my diet, but not for 90 days at least.

    In summary, it all begins with testing. Get a complete test and then study the implications for you.

    #2764 Reply

    Tara A.

    Thanks for such a great explanation of everything, Jack. I’m going to add your post to my file to further help me digest and work through everything.

    And pardon my ignorance if I’m still confused on the testing, but is the Yasko test you’re referring to the Methylation Panel for $495? I’m trying to compare what’s tested on that vs. Dr. Ben’s for $325. I placed that order, but it appears as though they shipped the wrong kit, so there still may be time to change it (especially with today being a holiday). I am coming at this suspecting to find more than just the MTHFR mutations, but from everything involved with CFS/ME as well. And though I don’t have $ to be throwing around foolishly, I certainly want to do, as you’ve said, get the appropriate tests and establish the correct foundation for treatment from the starting gate.

    I greatly appreciate those of your further along in all of this, helping the rest of us navigate through. I hope to pay it forward at some point myself. Thanks again.

    #2770 Reply


    I believe the Yasko test is the methylation panel for $495. That test is a genome test – it tests for around 30 genes that control methylation. It will tell you if each of the genes she tests for have no mutation or if they have homozygous or heterozygous mutations.

    The test you ordered through Dr. Ben for $325 is the methylation pathways panel. Vitamin Diagnostics (now Health Diagnostics and Research Institute) in NJ does the tests. It is not a genome test – it does not tell you whether you have homo, hetero, or no mutations. Rather, it is a functional test – it tells you how well the methylation process is working in the body. Sometimes you can infer indirectly which genes are mutated.

    Over at Phoenix Rising, there are discussions about which kind of testing is most informative – genome or functional tests. Many factors interact to determine which genes get expressed. The function of many genes is unknown. Only a limited number of genes are tested for. While Jack presents a good argument for genome testing, knowing some of your genes doesn’t mean you know how well they function together in totality. Several people that have had genome testing said they got more value out of the functional tests. Richvank’s interpretations of the HDRI methylation pathways panel give people actionable information for changing their biochemistry.

    #2773 Reply


    GREAT explanation of the two, Lynn. That helps me loads. I feel confident sticking with the Health Diagnostics panel then, at least for now, to get me started with Fredd’s protocol. That all makes sense — we’d want to know specifically how my methylation cycle is functioning, regardless of the mutations present. And like you said, functioning can be a gauge for possible mutations indirectly anyway. It seems as if this panel is what the folks over at PR use and what helps Fredd and Dr. Rich advise along the way. Good call. Thanks again.

    #2774 Reply


    I’m pretty sure I read something about Yasko’s panel being around $1000 for the 30 SNP’s, just to let people know.

    #2776 Reply

    #2779 Reply


    I meant to also mention that included in the price of Dr. Yasko’s methylation panel is an interpretation of what the genetic results mean and also recommendations of her products for treatment of the genetic results. Apparently the product recommendations are extensive and expensive, and that’s why Rich came up with his simplified protocol, to make it easier and less expensive for people trying to follow Dr. Yasko’s program.

    I have seen people on Phoenix Rising say they paid $495 for the methylation panel.

    #2781 Reply


    Sorry, I seriously heard $1000 somewhere, didn’t mean to steer anybody wrong, that is good news then, it is a lot cheaper than I thought, I may have to do some re-thinking.

    #2853 Reply

    Tara A.

    Just wondering how others have done with these strips… I’m having a hard time interpreting them. The color strips are extremely similar; when you’re holding your strip next to the sample palate, it looks virtually idential to any of them from 400 up to 1600. Very difficult to distinguish.

    And if I dip the strip and wait 2 minutes, as shown on the container, there is very little fade, but if I hold it under the urine stream, the strips turn almost completely white (indicating beyond 1600). Very confusing.

    #3021 Reply

    Lisa S

    The Yasko panel was close to $1000, but the price was dropped about a year ago to $495. Sometime after that, the ACE mutation was dropped (and I think something else was added?); there is a discussion on the nutrigenomics forum saying that she assumes most of her clients have at least once copy of ACE. (I’m going from memory on that so if it’s important to you, you’ll have to look it up).

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